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Page 1
Endocrine system involvement in patients with RASopathies: A case series.
Siano MA, Pivonello R, Salerno M, Falco M, Mauro C, De Brasi D, Klain A, Sestito S, De Luca A, Pinna V, Simeoli C, Concolino D, Mainolfi CG, Mannarino T, Strisciuglio P, Tartaglia M, Melis D. Siano MA, et al. Front Endocrinol (Lausanne). 2022 Nov 18;13:1030398. doi: 10.3389/fendo.2022.1030398. eCollection 2022. Front Endocrinol (Lausanne). 2022. PMID: 36483002 Free PMC article.
Targeted metabolomics in the expanded newborn screening for inborn errors of metabolism.
Scolamiero E, Cozzolino C, Albano L, Ansalone A, Caterino M, Corbo G, di Girolamo MG, Di Stefano C, Durante A, Franzese G, Franzese I, Gallo G, Giliberti P, Ingenito L, Ippolito G, Malamisura B, Mazzeo P, Norma A, Ombrone D, Parenti G, Pellecchia S, Pecce R, Pierucci I, Romanelli R, Rossi A, Siano M, Stoduto T, Villani GR, Andria G, Salvatore F, Frisso G, Ruoppolo M. Scolamiero E, et al. Mol Biosyst. 2015 Jun;11(6):1525-35. doi: 10.1039/c4mb00729h. Mol Biosyst. 2015. PMID: 25689098
RASopathies and hemostatic abnormalities: key role of platelet dysfunction.
Di Candia F, Marchetti V, Cirillo F, Di Minno A, Rosano C, Pagano S, Siano MA, Falco M, Assunto A, Boccia G, Magliacane G, Pinna V, De Luca A, Tartaglia M, Di Minno G, Strisciuglio P, Melis D. Di Candia F, et al. Among authors: siano ma. Orphanet J Rare Dis. 2021 Dec 2;16(1):499. doi: 10.1186/s13023-021-02122-7. Orphanet J Rare Dis. 2021. PMID: 34857025 Free PMC article.
Risk of autoimmune diseases in patients with RASopathies: systematic study of humoral and cellular immunity.
Siano MA, Marchetti V, Pagano S, Di Candia F, Alessio M, De Brasi D, De Luca A, Pinna V, Sestito S, Concolino D, Tartaglia M, Strisciuglio P, D'Esposito V, Cabaro S, Perruolo G, Formisano P, Melis D. Siano MA, et al. Orphanet J Rare Dis. 2021 Oct 2;16(1):410. doi: 10.1186/s13023-021-02050-6. Orphanet J Rare Dis. 2021. PMID: 34600590 Free PMC article.
Clinical variability of neurofibromatosis 1: A modifying role of cooccurring PTPN11 variants and atypical brain MRI findings.
D'Amico A, Rosano C, Pannone L, Pinna V, Assunto A, Motta M, Ugga L, Daniele P, Mandile R, Mariniello L, Siano MA, Santoro C, Piluso G, Martinelli S, Strisciuglio P, De Luca A, Tartaglia M, Melis D. D'Amico A, et al. Among authors: siano ma. Clin Genet. 2021 Nov;100(5):563-572. doi: 10.1111/cge.14040. Epub 2021 Aug 17. Clin Genet. 2021. PMID: 34346503
Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature.
Di Candia F, Fontana P, Paglia P, Falco M, Rosano C, Piscopo C, Cappuccio G, Siano MA, De Brasi D, Mandato C, De Maggio I, Squeo GM, Monica MD, Scarano G, Lonardo F, Strisciuglio P, Merla G, Melis D. Di Candia F, et al. Among authors: siano ma. Eur J Pediatr. 2022 Jan;181(1):171-187. doi: 10.1007/s00431-021-04108-w. Epub 2021 Jul 7. Eur J Pediatr. 2022. PMID: 34232366 Free PMC article. Review.
17 results